SLC7A3: Cationic Amino Acid Transporter, y+ System
Solute Carrier Family 7 Member 3 – Key Mediator of Arginine, Lysine, and Ornithine Transport
Gene Information Card
| Symbol | SLC7A3 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 84889 ncbi.nlm.nih.gov/gene/84889 |
| Ensembl ID | ENSG00000165349 |
| UniProt ID | Q8WY07 |
| OMIM ID | 300184 |
| HGNC ID | 11062 |
| Aliases | CAT-3, ATRC3, y+ system transporter |
Description
SLC7A3 encodes a member of the solute carrier family 7, a sodium-independent cationic amino acid transporter that mediates the uptake of arginine, lysine, and ornithine via the y+ transport system. The protein is expressed in multiple tissues including brain, placenta, and testis, and plays a role in nitric oxide synthesis, immune function, and cellular growth. Mutations in SLC7A3 have been associated with lysinuric protein intolerance and other amino acid transport disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysinuric Protein Intolerance (LPI) | Defective transport of dibasic amino acids (arginine, lysine, ornithine) across basolateral membrane of intestinal and renal epithelial cells due to SLC7A3 dysfunction. | ClinVar, OMIM |
| Hyperargininemia | Impaired arginine transport leading to elevated plasma arginine and potential neurological symptoms. | ClinVar |
| Cystinuria (type I) | Altered cationic amino acid reabsorption in kidney proximal tubule; SLC7A3 variants may contribute to phenotype. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Placenta | 1.8 | Low |
| Testis | 1.5 | Low |
| Kidney | 0.9 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| SH-SY5Y | 1.2 | Moderate expression |
| HepG2 | 0.1 | Not detected |
| Caco-2 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.845G>A (p.Arg282His) | Missense | <0.01% | Reduced arginine transport activity |
| c.1124T>C (p.Leu375Pro) | Missense | <0.01% | Impaired membrane localization |
| c.1366C>T (p.Arg456*) | Nonsense | <0.01% | Loss of function due to premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants (e.g., p.Arg282His, p.Arg456*) reduce or abolish cationic amino acid transport activity, leading to lysinuric protein intolerance.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC7A3.
Dominant Negative (DN)
No dominant-negative mutations reported in SLC7A3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cationic amino acid transport (y+ system)
• Arginine and proline metabolism
• Urea cycle and metabolism of amino groups
• Nitric oxide biosynthesis
Protein Summary
The SLC7A3 protein (UniProt Q8WY07) is a 657-amino acid, 12-transmembrane domain transporter that functions as a sodium-independent, high-affinity exchanger for cationic amino acids. It is localized to the plasma membrane and is essential for cellular uptake of arginine, lysine, and ornithine. The protein is expressed in brain, placenta, and testis, and its activity is critical for nitric oxide production, immune cell function, and growth regulation. Structural modeling indicates a homodimeric assembly, and post-translational glycosylation is required for proper trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A3 Knockout HEK293 Cell Line | EDJ-KQ10237 | Human | 84889 | Details Get a Quote |
| SLC7A3 Knockout HeLa Cell Line | EDJ-KQ57675 | Human | 84889 | Details Get a Quote |
| SLC7A3 Knockout A-549 Cell Line | EDJ-KQ66175 | Human | 84889 | Details Get a Quote |
| SLC7A3 Knockout HCT 116 Cell Line | EDJ-KQ74602 | Human | 84889 | Details Get a Quote |
